ISOLATION AND IDENTIFICATION OF THE HUMAN ANIRIDIA GENE

这项研究是针对人类的隔离和鉴定 无虹膜基因。虹膜缺乏症是一种眼病，会导致渐进性的 视力差，常伴有虹膜缺失和眼底改变。 视神经。虹膜缺乏症基因的分离对 有几个原因：(A)理解分子基础是必要的 (B)它将有助于识别处于危险之中的个人 疾病；(C)疾病的严重程度可能与 基因中突变的位置，即基因表达水平的变化 或无虹膜蛋白特定区域的变化。了解以下内容 该基因的分子结构应该是非常有用的分类。 无虹膜患者和未来的治疗。 利用人类11号染色体PL3带的物理图谱位置作为 我们使用位置克隆技术分离出了一个候选基因 轨迹虹膜缺乏症。该基因编码的信息长2.7kb， 存在于眼睛和大脑中，在胎儿和成人阶段都是如此。我们的 目的是确定AN基因的结构，推导出其蛋白质 由它和它的势函数编码。在将这项研究扩展到 患者，我们将在受影响的患者中寻找无虹膜基因突变 并确定特定蛋白质结构域的突变 与临床疾病的亚型相关。

This research is directed at the isolation and identification of the human aniridia gene. Aniridia, an eye disease, results in progressive loss of vision and is frequently accompanied by absence of the iris and changes in the optic nerve. Isolation of the gene for aniridia is important for several reasons: (a) it is necessary in understanding the molecular basis of the disease; (b) it will be useful in identifying individuals at risk for disease; (c) the severity of the disease may be correlated with the position of mutation in the gene i.e., change in levels of gene expression or changes in specific domains of the aniridia protein. Knowledge of the molecular structure of the gene should be very useful in classification of aniridia patients and future therapy. Using the physical map location in band pl3 of human chromosome 11 as a guide we used positional cloning to isolate a candidate gene for the aniridia locus. The message encoded by the gene is 2.7 kb in size and is present in the eyes and brain, both during the fetal and adult stages. Our objective is to determine the structure of the AN gene, deduce the protein encoded by it and its potential function. In extending this research to patients, we will search for mutation in the aniridia gene in affected individuals and determine if mutations in specific protein domains correlate with subtypes of the clinical disease.